Canonical Allele Identifier: CA2320965406

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533624G= , CM000681.2:g.7533624G=	GRCh38
NC_000019.9:g.7598510G= , CM000681.1:g.7598510G=	GRCh37
NC_000019.8:g.7504510G=	NCBI36
NG_013374.1:g.4473G=
NG_015806.1:g.16015G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1677G= MANE Select	ENSP00000264079.5:p.Ser559=
ENST00000264079.10:c.1677G=	ENSP00000264079.5:p.Ser559=
ENST00000394321.9:n.1992G=
ENST00000599334.1:c.405G=
ENST00000601870.1:c.30G=
ENST00000602227.1:n.231G=
NM_020533.2:c.1677G=	NP_065394.1:p.Ser559=
NM_020533.3:c.1677G= MANE Select	NP_065394.1:p.Ser559=